Do you Really Want to Know, a new documentary by John Zaritsky, follows three families whose members battle the dilemma of whether or not to get tested for Huntington’s disease (hd). The documentary explores the emotional difficulties involved with deciding to get genetically tested. hd is a debilitating, neurodegenerative disorder that leads to a decline in cognition and abnormal, involuntary movements. Unfortunately, there is no cure and the disease is ultimately fatal.
The hd gene was isolated in 1993, allowing those at risk to get genetically tested for it. It is inherited in an autosomal dominant pattern in families. Each person who has a
direct ancestor with Huntington’s has a 50 per cent chance of inheriting the gene; those who carry the gene develop the symptoms eventually, at some point in their life.
Dr. John Roder, now 65-years-old, is a renowned scientist at Mount Sinai Hospital afflicted with the disease and one of the subjects of Zantsky’s documentary. He lives with advanced symptoms, yet is still working five days a week researching disorders of the brain such as epilepsy and schizophrenia in a quest to find new treatments. He was aware that Huntington’s in his family history when he married his high school sweetheart and had two children.
Roder’s daughter, at 32 years of age, decided to get tested because she was thinking of having children; her test came back negative. Roder and his wife discouraged their son from getting tested because he was already dealing with schizophrenia and they did not want him to worry about another disease. His test also came back negative. Roder says that he does not want to go through the suffering his dad went through at the end of his illness. He talks about the possibility of euthanasia, which is currently illegal in Canada.
Dr. Jeff Carroll faced the same dilemma when he wanted to have children with his wife. He was only 20 years old when his mother began showing symptoms of hd. Although it was heartbreaking to find out that he tested positive for hd, he was glad he checked. Knowing allowed him and his wife to undergo in vitro fertilization with pre-implantation genetic diagnosis, ensuring that his offspring would not inherit the hd gene. He is now the proud father of fraternal twins. He has since become a prominent researcher in the field as well as a public advocate for families battling the disease.
Carroll is one of six siblings. Four of whom have tested positive for the Huntington’s gene.
Carroll believes that it is cruel to let human beings suffer through the end stages of this debilitating illness.
Theresa Monahan is from a large family with a history of Huntington’s. She secretly got tested and did not tell the rest of her family until her daughter got married. She worried about her grandchildren inheriting the hd gene. Monahan tested negative for the hd gene. Her siblings have decided to not get tested because they do not want to worry about how the diagnosis will alter their lives.
There are various reasons for wanting to get genetically tested for the hd gene. Some believe that knowledge is your best friend and that it will help better plan for the future. Others do not want to get tested because they are afraid that testing positive will not let them live life to the fullest; some just want to live day by day. For some, the possibility of having the gene looms over their mind all the time. In Canada, 75 per cent of people at risk for hd will not get tested. As genetic diagnosis becomes more readily available and popular, the question of ‘do you really want to know?’ will be on many more people’s minds.
